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Artigo de periodico
Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development (2018)
Hsia, Gabriella S. P; Musso, Camila M; Alvizi, Lucas; Brito, Luciano A; Kobayashi, Gerson S; Pavanello, Rita C M; Zatz, Mayana ; Gardham, Alice; Wakeling, Emma; Zechi-Ceide, Roseli M; Bertola, Débora; Passos-Bueno, Maria Rita
Source: Frontiers in Genetics. Unidades: IB, HRAC
Subjects: DISOSTOSE CRÂNIOFACIAL, DOENÇAS GENÉTICAS, CROMOSSOMOS, METILAÇÃO DE DNA, MALFORMAÇÕES, ANORMALIDADES CRANIOFACIAIS, GENÉTICA MÉDICA
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ABNT
HSIA, Gabriella S. P et al. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, v. 9, p. 1-8, 2018Tradução . . Disponível em: https://doi.org/10.3389/fgene.2018.00149. Acesso em: 07 jul. 2024.
APA
Hsia, G. S. P., Musso, C. M., Alvizi, L., Brito, L. A., Kobayashi, G. S., Pavanello, R. C. M., et al. (2018). Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, 9, 1-8. doi:10.3389/fgene.2018.00149
NLM
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 jul. 07 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Vancouver
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 jul. 07 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Artigo de periodico
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome (2017)
Romanelli Tavares, Vanessa L.; Zechi-Ceide, Roseli M.; Bertola, Debora R.; Gordon, Christopher T.; Ferreira, Simone G.; Hsia, Gabriella S. P.; Yamamoto, Guilherme L.; Ezquina, Suzana A. M.; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Freitas, Renato S.; Souza, Josiane; Raposo-Amaral, Cesar A.; Zatz, Mayana ; Amiel, Jeanne; Guion-Almeida, Maria L.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, MALFORMAÇÕES, DOENÇAS GENÉTICAS, FENÓTIPOS, VARIAÇÃO GENÉTICA
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ABNT
ROMANELLI TAVARES, Vanessa L. et al. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, v. 173, n. 4, p. 938-945, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38101. Acesso em: 07 jul. 2024.
APA
Romanelli Tavares, V. L., Zechi-Ceide, R. M., Bertola, D. R., Gordon, C. T., Ferreira, S. G., Hsia, G. S. P., et al. (2017). Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, 173( 4), 938-945. doi:10.1002/ajmg.a.38101
NLM
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Vancouver
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes L.; Mitne Neto, Miguel; Silva, Helga C. A.; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João R. M.; Gillingwater, Tom; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Source: American Journal of Human Genetics. Unidades: HRAC, IB
Subjects: DOENÇAS NEUROMUSCULARES, DOENÇAS NEURODEGENERATIVAS
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ABNT
NISHIMURA, Agnes L. et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. No, n. 5, p. 822-831, 2004Tradução . . Acesso em: 07 jul. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, No( 5), 822-831.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jul. 07 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jul. 07 ]
Trabalho de evento-resumo periodico
A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13 (2004)
Nishimura, A. L.; Mitne Neto, Miguel; Silva, H. C. A.; Richieri-Costa, Antonio; Oliveira, J. R. M. (David Geffen Medical School - UCLA, Dept. of Neurology, Los Angeles, USA); Cascio, D.; Yamamoto, L. U.; Vainzof, Mariz ; Skehel, P.; Zatz, Mayana
Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society. Unidades: IB, HRAC
Subjects: DISTROFIA MUSCULAR (CONGRESSOS), DOENÇAS GENÉTICAS (CONGRESSOS), DOENÇAS NEURODEGENERATIVAS (CONGRESSOS)
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ABNT
NISHIMURA, A. L. et al. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 07 jul. 2024. , 2004
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Cascio, D., Yamamoto, L. U., et al. (2004). A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. Oxford: Instituto de Biociências, Universidade de São Paulo.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Cascio D, Yamamoto LU, Vainzof M, Skehel P, Zatz M. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. 2004 ; 14( 8-9): 563.[citado 2024 jul. 07 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Cascio D, Yamamoto LU, Vainzof M, Skehel P, Zatz M. A novel locus for a late onset amyotrophic lateral sclerosis/motor neuron disease variant at 20q13. Neuromuscular Disorders. 2004 ; 14( 8-9): 563.[citado 2024 jul. 07 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes Lumi; Mitne Neto, Miguel; Silva, Helga Cristina Almeida da; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João Ricardo Mendes de; Gillingwater, T.; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Source: American Journal of Human Genetics. Unidades: HRAC, IB
Subjects: DOENÇAS NEURODEGENERATIVAS, MUTAÇÃO GENÉTICA
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ABNT
NISHIMURA, Agnes Lumi et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. 75, n. 5, p. 822-831, 2004Tradução . . Disponível em: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf. Acesso em: 07 jul. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A. da, Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, 75( 5), 822-831. Recuperado de http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
NLM
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jul. 07 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jul. 07 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Trabalho de evento-resumo periodico
A new form of autosomal dominant late onset spinal muscular atrophy (2001)
Bernardino, Andréa L. F.; Richieri-Costa, Antonio; Passos-Bueno, Maria Rita ; Cerqueira, A M P
Source: American Journal of Human Genetics. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assunto: ATROFIA MUSCULAR
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ABNT
BERNARDINO, Andréa L. F. et al. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 07 jul. 2024. , 2001
APA
Bernardino, A. L. F., Richieri-Costa, A., Passos-Bueno, M. R., & Cerqueira, A. M. P. (2001). A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
NLM
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 jul. 07 ]
Vancouver
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 jul. 07 ]
Trabalho de evento-resumo periodico
Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome (1999)
Splendore, A; Silva, E O; Alonso, L. G; Brunoni, Décio ; Alonso, Nivaldo ; Richieri-Costa, Antonio ; Cavalcanti, D; Carakushansky, Gerson; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Conference titles: American Society of Human Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
SPLENDORE, A et al. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF. Acesso em: 07 jul. 2024. , 1999
APA
Splendore, A., Silva, E. O., Alonso, L. G., Brunoni, D., Alonso, N., Richieri-Costa, A., et al. (1999). Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
NLM
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 jul. 07 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
Vancouver
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 jul. 07 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
Artigo de periodico
Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses (1998)
Passos-Bueno, Maria Rita ; Sertié, Andréa L; Richieri-Costa, Antonio; Alonso, Luís G; Zatz, Mayana ; Alonso, Nivaldo; Brunoni, Decio; Ribeiro, Sandra F M
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, v. 78, p. 237-241, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m. Acesso em: 07 jul. 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., et al. (1998). Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78, 237-241. doi:10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 jul. 07 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m

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